Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NFASC_chr1_204823652_205027822	204877024	ATATAATA others(37): Show ATATAATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02293.hp2 NA18990.hp2 HG00544.hp2 HG02293.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0006 a0001c0004 a0002c0003 a0002c0006	a0001c0004t0001 a0002c0003t0002 a0002c0006t0001 a0001c0004t0001 a0002c0003t0002 a0002c0006t0001	a0001c0004t0001g0046 a0002c0003t0002g0049 a0002c0006t0001g0070 a0001c0004t0001g0046 a0002c0003t0002g0049 a0002c0006t0001g0070	3	226	0.0133	-44	c.-19 others(65): Show c.-199-43603_-199-43560delATATATATTTATATATATATAATA TATTTATTTATATATTTATA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877024	ATATAATA others(37): Show ATATAATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02293.hp2 NA18990.hp1 HG00544.hp2 HG02293.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0169 a0001c0002t0001g0144 a0001c0002t0001g0170 a0001c0001t0002g0169 a0001c0002t0001g0144 a0001c0002t0001g0170	3	264	0.0114	-44	c.-91 others(61): Show c.-91+5959_-91+6002delATATATATTTATATATATATAATATATT TATTTATATATTTATA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFE2L2_chr2_177225308_177269727	177239681	AAAAGTTT others(37): Show AAAAGTTTATGTAATGTTTTTTCTTGCTATGAGAGGTCTCAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	326	0.0031	-44	c.46- others(59): Show c.46-5454_46-5411delGTTTTGAGACCTCTCATAGCAAGAAAAAAC ATTACATAAACTTT	NFE2L2	ENSG00000116044.17	transcript	ENST00000397062.8	protein_coding	1/4			chr2	TogoVar
NFIB_chr9_14076848_14319141	14160826	AATCTCAA others(37): Show AATCTCAAAAAAAAAAAAAAAAAAAACAGAAAAAAAGAAGAAAGC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19057.hp2 NA19065.hp2 HG02004.hp1 NA19057.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0232	3	304	0.0099	-44	c.617 others(61): Show c.617-4977_617-4934delGCTTTCTTCTTTTTTTCTGTTTTTTTTT TTTTTTTTTTTGAGAT	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	3/10			chr9	TogoVar
NGB_chr14_77260483_77276206	77269758	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02976.hp2 HG02040.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0174 a0001c0001t0001g0203	2	366	0.0055	-44	c.90- others(57): Show c.90-476_90-433delGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232995095	ATGTGTAC others(37): Show ATGTGTACAGTATGTATATGTGTACAGTATGTATATATGTACAGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG02257.hp1 others(12): Show HG00738.hp1 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0006 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0002t0011 a0001c0002t0028 a0001c0005t0005 a0001c0013t0001 a0002c0006t0008 a0002c0006t0030 a0002c0010t0003	a0001c0001t0001g0337 a0001c0001t0002g0024 a0001c0001t0002g0123 others(12): Show a0001c0001t0001g0337 a0001c0001t0002g0024 a0001c0001t0002g0123 a0001c0001t0006g0249 a0001c0001t0006g0277 a0001c0002t0003g0290 a0001c0002t0011g0140 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0028g0020 a0001c0005t0005g0287 a0001c0013t0001g0278 a0002c0006t0008g0342 a0002c0006t0030g0341 a0002c0010t0003g0292	15	362	0.0414	-44	c.-75 others(63): Show c.-75+17929_-75+17972delACTGTACATATATACATACTGTACAC ATATACATACTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGLY1_chr3_25713944_25788443	25783480	ACCGGCAG others(37): Show ACCGGCAGGGGCGGGGTCCTCGGCCGGCAGGGGCGGGGTCCTCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(124): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0006g0173 a0001c0001t0007g0167 a0001c0003t0001g0107 a0001c0003t0001g0111 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0004t0001g0020 a0002c0005t0001g0146	127	264	0.4811	-44	c.-13 others(52): Show c.-134_-91delCCGAGGACCCCGCCCCTGCCGGCCGAGGACCCCGCCC CTGCCGG	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		38		chr3	TogoVar
NGLY1_chr3_25713944_25788443	25783542	CTCGGCCG others(37): Show CTCGGCCGGCAGGGGCGGGGTCCTCGGCCGGCAGGGGCGGGGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	264	0.0038	-44	c.-19 others(53): Show c.-196_-153delAGACCCCGCCCCTGCCGGCCGAGGACCCCGCCCCTG CCGGCCGA	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		100		chr3	TogoVar
NHLRC4_chr16_562005_574495	571494	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03225.hp2 HG03579.hp2 others(1): Show HG02615.hp1 HG03225.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	424	0.0094	-44	c.30 others(55): Show c.3076_*3119delTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCGCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		2000		chr16	TogoVar
NIBAN2_chr9_127500343_127574073	127523188	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	332	0.0030	-44	c.589 others(59): Show c.589+447_589+490delATATATATATATATATATATATATATATAT ATATATATATTTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127568490	GGTGGGCA others(37): Show GGTGGGCAGCAGGCTGCGACCCCTGCCCCAGCTCGGCCAGGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02135.hp2 HG02165.hp1 others(5): Show HG02129.hp2 HG02135.hp2 HG02165.hp1 NA18950.hp2 NA18966.hp1 NA18971.hp1 NA18977.hp1 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0014 a0001c0001t0015 a0002c0003t0016 others(2): Show a0001c0001t0014 a0001c0001t0015 a0002c0003t0016 a0002c0003t0017 a0003c0004t0016	a0001c0001t0014g0013 a0001c0001t0014g0017 a0001c0001t0014g0018 others(5): Show a0001c0001t0014g0013 a0001c0001t0014g0017 a0001c0001t0014g0018 a0001c0001t0015g0014 a0002c0003t0016g0012 a0002c0003t0017g0015 a0002c0003t0017g0016 a0003c0004t0016g0011	8	332	0.0241	-44	c.55+ others(57): Show c.55+286_55+329delGACCCCTGGCCGAGCTGGGGCAGGGGTCGCAG CCTGCTGCCCAC	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	1/13			chr9	TogoVar
NIM1K_chr5_43187225_43285850	43198175	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	292	0.0034	-44	c.-69 others(63): Show c.-695+5766_-695+5809delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198181	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02451.hp1 HG03486.hp1 others(5): Show HG00408.hp2 HG02451.hp1 HG03486.hp1 NA18612.hp1 NA18964.hp1 NA18982.hp1 NA18984.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0226 a0001c0001t0002g0264 a0001c0001t0002g0265 others(5): Show a0001c0001t0001g0226 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0003t0002g0282	8	292	0.0274	-44	c.-69 others(63): Show c.-695+5772_-695+5815delCTTTCTTTCTTTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198185	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	292	0.0069	-44	c.-69 others(63): Show c.-695+5776_-695+5819delCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN3_chr8_62243854_62989904	62345350	TATACACA others(37): Show TATACACATATATGTATATATACACATATATGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0074 a0001c0001t0071g0074	1	144	0.0069	-44	c.54+ others(61): Show c.54+96227_54+96270delCACATATATGTATATATACACATATATG TATATATACACACATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD2_chr5_1003802_1043943	1035817	GAGGGTGG others(37): Show GAGGGTGGCTGGGGCAGTGGTTGGGGGTGGCTGGGGCAATGGCTA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19091.hp2 NA18945.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0245 a0001c0001t0002g0176 a0001c0001t0002g0245	2	319	0.0063	-44	c.659 others(59): Show c.659+358_660-383delCAGTGGTTGGGGGTGGCTGGGGCAATGGCT AAGGGTGGCTGGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLGN4X_chrX_5885042_6233867	5925879	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18943.hp1 NA18944.hp1 others(5): Show HG02027.hp1 NA18943.hp1 NA18944.hp1 NA18995.hp1 NA19009.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0067 a0001c0002t0003g0079 others(5): Show a0001c0002t0003g0010 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0126	8	128	0.0625	-44	c.626 others(63): Show c.626-16684_626-16641delATATATATATATATATATATATATAT ATATATATATATATATGT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6021033	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01256.hp1 HG00609.hp1 HG01192.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0002g0035 a0001c0001t0002g0098 a0001c0001t0001g0123 a0001c0001t0002g0035 a0001c0001t0002g0098	3	128	0.0234	-44	c.625 others(61): Show c.625+8203_625+8246delGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAGAGAGAGAG	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLRP12_chr19_53788741_53829314	53819654	TATACACA others(37): Show TATACACATGTATACATATATGTATGTATACATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02257.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02257.hp2 HG03453.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0010c0018 a0001c0003 a0010c0018	a0001c0003t0002 a0001c0003t0005 a0010c0018t0002 a0001c0003t0002 a0001c0003t0005 a0010c0018t0002	a0001c0003t0002g0050 a0001c0003t0005g0051 a0010c0018t0002g0048 others(1): Show a0001c0003t0002g0050 a0001c0003t0005g0051 a0010c0018t0002g0048 a0010c0018t0002g0049	4	416	0.0096	-44	c.289 others(61): Show c.289+4188_289+4231delGTGTGTATATATATGTATACATACATAT ATGTATACATGTGTAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NME8_chr7_37843597_37905397	37848166	GAGAGAAG others(37): Show GAGAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	388	0.0026	-44	c.-80 others(53): Show c.-802_-759delAGAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAGAA GAAGAAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		430		chr7	TogoVar
NME8_chr7_37843597_37905397	37848211	AGAAGAAG others(37): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0083 a0004c0005t0001g0083	1	388	0.0026	-44	c.-75 others(53): Show c.-757_-714delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA AGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		385		chr7	TogoVar
NME8_chr7_37843597_37905397	37848214	AGAAGAAG others(37): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA19080.hp2 HG03942.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0003 a0001c0028t0003 a0001c0001t0003 a0001c0028t0003	a0001c0001t0003g0057 a0001c0028t0003g0101 a0001c0001t0003g0057 a0001c0028t0003g0101	2	388	0.0052	-44	c.-75 others(53): Show c.-754_-711delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGA AGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		382		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19063.hp2 HG04184.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0038 a0001c0001t0034 a0001c0001t0038	a0001c0001t0034g0091 a0001c0001t0038g0190 a0001c0001t0034g0091 a0001c0001t0038g0190	2	258	0.0078	-44	c.85+ others(61): Show c.85+28403_85+28446delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMUR1_chr2_231518187_231535445	231525926	GCACACAC others(37): Show GCACACACACACACATGCATGCACACACACAGACACACACATGCA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	428	0.0023	-44	c.899 others(59): Show c.899-545_899-502delTGCATGTGTGTGTCTGTGTGTGTGCATGCA TGTGTGTGTGTGTG	NMUR1	ENSG00000171596.7	transcript	ENST00000305141.5	protein_coding	2/2			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(37): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02738.hp2 HG02809.hp2 others(3): Show HG02451.hp2 HG02738.hp2 HG02809.hp2 HG03239.hp1 HG03834.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0089 a0002c0002t0001g0199 others(3): Show a0002c0002t0001g0035 a0002c0002t0001g0089 a0002c0002t0001g0199 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0242	6	294	0.0204	-44	c.901 others(57): Show c.901+18_901+61delGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148918	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG02300.hp2 others(1): Show HG01255.hp1 HG02056.hp2 HG02300.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0018 a0001c0001 a0020c0018	a0001c0001t0001 a0001c0001t0002 a0020c0018t0001 a0001c0001t0001 a0001c0001t0002 a0020c0018t0001	a0001c0001t0001g0224 a0001c0001t0001g0267 a0001c0001t0002g0227 others(1): Show a0001c0001t0001g0224 a0001c0001t0001g0267 a0001c0001t0002g0227 a0020c0018t0001g0149	4	294	0.0136	-44	c.901 others(59): Show c.901+110_901+153delCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149050	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03486.hp1 HG01433.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0001g0078 a0001c0001t0001g0159	2	294	0.0068	-44	c.901 others(59): Show c.901+238_901+281delACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149133	ACTCCTAC others(37): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0087 a0002c0002t0004g0087	1	294	0.0034	-44	c.901 others(59): Show c.901+242_901+285delCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149485	GCTCACAC others(37): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	294	0.0034	-44	c.901 others(59): Show c.901+678_901+721delACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149621	ACACCACA others(37): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	294	0.0034	-44	c.901 others(59): Show c.901+727_901+770delCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149652	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	294	0.0034	-44	c.901 others(59): Show c.901+770_901+813delCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150541	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA20300.hp1 HG03942.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0280 a0001c0001t0001g0143 a0001c0001t0001g0280	2	294	0.0068	-44	c.902 others(59): Show c.902-308_902-265delTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150673	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	294	0.0034	-44	c.902 others(59): Show c.902-260_902-217delACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4L_chr20_32438059_32590333	32488781	TCCTTCCT others(37): Show TCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	196	0.0051	-44	c.700 others(63): Show c.700-14083_700-14040delGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGGAAGGAAGG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488783	CTTCCTTC others(37): Show CTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 NA19240.hp2 HG01123.hp2 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0010 a0001c0005t0002 a0001c0001t0008 a0001c0001t0010 a0001c0005t0002	a0001c0001t0008g0070 a0001c0001t0010g0026 a0001c0005t0002g0166 a0001c0001t0008g0070 a0001c0001t0010g0026 a0001c0005t0002g0166	3	196	0.0153	-44	c.700 others(63): Show c.700-14085_700-14042delAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGGAAGGAA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488786	CCTTCCTT others(37): Show CCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG01891.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0002 a0001c0001t0016 a0001c0005t0002	a0001c0001t0016g0040 a0001c0005t0002g0039 a0001c0001t0016g0040 a0001c0005t0002g0039	2	196	0.0102	-44	c.700 others(63): Show c.700-14088_700-14045delAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGGAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOLC1_chr10_102147389_102168870	102161160	AGAGTAGG others(37): Show AGAGTAGGGTAGTGAGAGGAGGCCCACCACTGGGCTTCCAGTTGT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0056 a0008c0011t0001g0056	1	408	0.0025	-44	c.174 others(60): Show c.1741+69_1741+112delAGTAGGGTAGTGAGAGGAGGCCCACCACT GGGCTTCCAGTTGTG	NOLC1	ENSG00000166197.17	transcript	ENST00000605788.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
NOM1_chr7_156944712_156978176	156976558	TCGTGATC others(37): Show TCGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(173): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(7): Show a0001 a0004 a0007 a0008 a0011 a0013 a0018 a0019 a0021 a0022	a0001c0001 a0001c0011 a0001c0013 others(14): Show a0001c0001 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0021 a0001c0030 a0001c0031 a0004c0005 a0007c0009 a0008c0012 a0011c0020 a0013c0022 a0018c0033 a0019c0024 a0021c0027 a0022c0032	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0017t0012 a0001c0018t0022 a0001c0021t0001 a0001c0030t0004 a0001c0031t0001 a0004c0005t0001 a0004c0005t0012 a0007c0009t0009 a0007c0009t0035 a0008c0012t0011 a0011c0020t0001 a0013c0022t0020 a0018c0033t0001 a0019c0024t0016 a0021c0027t0001 a0022c0032t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0256 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0001t0004g0026 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0179 a0001c0001t0004g0199 a0001c0001t0012g0003 a0001c0001t0012g0033 a0001c0001t0012g0139 a0001c0001t0014g0006 a0001c0001t0016g0030 a0001c0001t0016g0040 a0001c0001t0021g0010 a0001c0001t0021g0047 a0001c0001t0031g0133 a0001c0001t0032g0008 a0001c0001t0033g0131 a0001c0001t0034g0033 a0001c0001t0036g0110 a0001c0001t0037g0027 a0001c0001t0038g0201 a0001c0011t0001g0022 a0001c0011t0001g0074 a0001c0011t0001g0262 a0001c0013t0001g0120 a0001c0013t0001g0121 a0001c0013t0001g0122 a0001c0013t0001g0146 a0001c0017t0001g0009 a0001c0017t0012g0009 a0001c0018t0022g0055 a0001c0021t0001g0002 a0001c0030t0004g0008 a0001c0031t0001g0142 a0004c0005t0001g0018 a0004c0005t0001g0061 a0004c0005t0001g0063 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0211 a0004c0005t0001g0225 a0004c0005t0012g0061 a0007c0009t0009g0014 a0007c0009t0009g0049 a0007c0009t0009g0093 a0007c0009t0009g0103 a0007c0009t0035g0014 a0008c0012t0011g0048 a0008c0012t0011g0145 a0008c0012t0011g0257 a0008c0012t0011g0284 a0011c0020t0001g0113 a0011c0020t0001g0114 a0013c0022t0020g0035 a0018c0033t0001g0063 a0019c0024t0016g0106 a0021c0027t0001g0074 a0022c0032t0001g0255	176	426	0.4132	-44	c.68 others(55): Show c.6856_*6899delCGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTG GGATTACAGG	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding		3383		chr7	TogoVar
NOS1AP_chr1_162064691_162375475	162289209	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0172 a0001c0004t0003g0172	1	182	0.0055	-44	c.270 others(61): Show c.270+1800_270+1843delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG03130.hp2 HG02486.hp1 HG02895.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0125 a0001c0006t0093 a0001c0011t0016 a0001c0001t0125 a0001c0006t0093 a0001c0011t0016	a0001c0001t0125g0166 a0001c0006t0093g0167 a0001c0011t0016g0168 a0001c0001t0125g0166 a0001c0006t0093g0167 a0001c0011t0016g0168	3	294	0.0102	-44	c.-42 others(63): Show c.-421+1592_-421+1635delTATATATATATATATATATATATATA TATATATATATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27771086	CCTGGGCT others(37): Show CCTGGGCTTCCTCCCACACTGCCCCCAGGCTGCGGCTCCTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	402	0.0025	-44	c.170 others(60): Show c.1705-113_1705-70delAGCACAGGAGCCGCAGCCTGGGGGCAGTG TGGGAGGAAGCCCAG	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	14/26			chr17	TogoVar
NPAS1_chr19_47014837_47050775	47027576	TTCTCTCT others(37): Show TTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02630.hp2 HG03540.hp2 HG00733.hp1 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0405 a0001c0003t0001g0303 a0001c0003t0001g0310 a0001c0001t0001g0405 a0001c0003t0001g0303 a0001c0003t0001g0310	3	418	0.0072	-44	c.359 others(61): Show c.359-4676_359-4633delCTCTGCCCCTGGTCTCCCGTCTCTCTGC CCCTGGTCTCCCGTCT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS3_chr14_32933879_33809173	33543946	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(38): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG02055.hp1 HG02055.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18968.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050 a0001c0001t0053 a0001c0001t0056 a0001c0003t0043 a0001c0007t0060 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0028 a0002c0005t0012 a0002c0005t0015 a0002c0005t0047	a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 others(38): Show a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0006g0020 a0001c0001t0007g0083 a0001c0001t0010g0055 a0001c0001t0011g0016 a0001c0001t0013g0001 a0001c0001t0013g0022 a0001c0001t0014g0080 a0001c0001t0021g0036 a0001c0001t0022g0015 a0001c0001t0024g0009 a0001c0001t0029g0035 a0001c0001t0034g0088 a0001c0001t0035g0076 a0001c0001t0040g0078 a0001c0001t0042g0070 a0001c0001t0044g0092 a0001c0001t0050g0089 a0001c0001t0053g0048 a0001c0001t0056g0047 a0001c0003t0043g0091 a0001c0007t0060g0042 a0002c0002t0001g0056 a0002c0002t0002g0019 a0002c0002t0011g0027 a0002c0002t0028g0031 a0002c0005t0012g0005 a0002c0005t0015g0068 a0002c0005t0047g0051	41	92	0.4457	-44	c.469 others(63): Show c.469-16162_469-16119delATATATATATATATATATATATATAT ATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33543959	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02622.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02922.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0059 a0002c0004t0026	a0001c0001t0002g0040 a0001c0001t0003g0058 a0001c0001t0004g0059 others(2): Show a0001c0001t0002g0040 a0001c0001t0003g0058 a0001c0001t0004g0059 a0001c0003t0059g0049 a0002c0004t0026g0023	5	92	0.0544	-44	c.469 others(63): Show c.469-16156_469-16113delATATATATATATATATATATATATAT ATATATATATATCTATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPIPB13_chr16_30217897_30253479	30225838	ATTCATTT others(37): Show ATTCATTTGATGGACAAAATTACCGCCACCAACACAGTCTGCACC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0002 a0014c0030t0002	a0014c0030t0002g0121 a0014c0030t0002g0121	1	145	0.0069	-44	c.643 others(57): Show c.643-79_643-36delGGTGCAGACTGTGTTGGTGGCGGTAATTTTGT CCATCAAATGAA	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	7/7			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28358889	CTGACCAA others(37): Show CTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	361	0.0028	-44	c.120 others(61): Show c.120+3770_120+3813delATTTTTGTATTTTTAGTAGAGACAGGGT TTCACCATGTTGGTCA	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7			chr16	TogoVar
NR0B1_chrX_30299206_30314390	30301296	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0072 a0001c0002t0001g0021 a0001c0002t0001g0072	2	322	0.0062	-44	c.32 others(55): Show c.3239_*3282delTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2909		chrX	TogoVar
NR1H3_chr11_47252996_47274033	47255571	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG04199.hp1 HG02004.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	368	0.0054	-44	c.-25 others(55): Show c.-2595_-2552delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TCTCTCTCTC	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		2424		chr11	TogoVar
NRP1_chr10_33172493_33339667	33283668	CAGCAAAC others(37): Show CAGCAAACCTTTAACTATCTCTATATTAGGAACAAACTCATGGAG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0243 a0001c0025t0004g0243	1	262	0.0038	-44	c.249 others(63): Show c.249-12856_249-12813delCTCCATGAGTTTGTTCCTAATATAGA GATAGTTAAAGGTTTGCT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	2/16			chr10	TogoVar
NRXN1_chr2_49913503_51037132	50329603	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01517.hp1 HG02300.hp2 HG01261.hp1 HG01517.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0033 a0001c0001t0001 a0001c0001t0020 a0001c0002t0033	a0001c0001t0001g0055 a0001c0001t0020g0063 a0001c0002t0033g0097 a0001c0001t0001g0055 a0001c0001t0020g0063 a0001c0002t0033g0097	3	116	0.0259	-44	c.336 others(65): Show c.3365-92677_3365-92634delTATATATATATATATATATATATA TATATACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar

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